ABCMdb

ABCC2 p.His1414Tyr

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Publications

PMID: 18974617 [PubMed] Ho WF et al: "Genetic variations of the ABCC2 gene in the Chinese, Malay, and Indian populations of Singapore."

No. Sentence Comment

13 Three novel nonsynonymous variations: 2686GÀA (Glu896Lys), 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were detected in single heterozygous Malay, Chinese, and Indian subjects, respectively. Login to comment
44 Of the 8 nonsynonymous variations, 3 variations were novel: 2686GÀA (Glu896Lys), 4240CÀT (His1414Tyr), and 4568AÀC (Gln1523Pro), each was found as heterozygotes in Malay, Chinese, and Indian subjects, respectively. Login to comment
46 MRP2 comprises 17 transmembrane segments organized in three membrane-spanning domains (MSD).2) Among the novel nonsynonymous variations, 4240CÀT (His1414Tyr) is located between Walker A and Walker C motifs of the ABC, and 4568AÀC (Gln1523Pro) is located just adjacent to the ABC.5) Mutations that are likely to affect function or alter phenotype have been found to localize within the ABC or its adjacent regions.5) This is consistent with the results obtained using the PolyPhen program (http://genetics.bwh.harvard.edu/pph/) to predict the functional effects of the amino acid substitutions. Login to comment
47 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were expected to be probably damaging based on the position-specific independent count score differences derived from multiple alignments. Login to comment
49 This is also well in agreement with the fact that His1414Tyr and Gln1523Pro involve a larger degree of structural modification than Glu896Lys. Login to comment
50 The polar histidine of His1414Tyr is replaced by the non-polar tyrosine. Login to comment
67 Population Genetic Variations of ABCC2 Gene SNP20 (389) el nonsynonymous variations, 2686GÀA (Glu896Lys) was speculated to be benign, and 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were speculated to be potentially damaging in function. Login to comment